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Wieacker-Wolff syndrome - A rare X-linked hereditary disorder
Dias, João; Martins, Cecília; Soares, Ana Rita; Gonçalves-Rocha, Alexandra M; Rocha, FelisbelaWieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems. The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infections. Physic...
Data: 2025
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Origem: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL